Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434226
rs121434226
IRF6
A 0.700 CausalMutation CLINVAR Skinfold over toenail is pathognomonic for the popliteal pterygium syndrome in a Congolese family with large intrafamilial variability. 25548624

2014
dbSNP: rs121434226
rs121434226
IRF6
A 0.700 CausalMutation CLINVAR EEC syndrome-like phenotype in a patient with an IRF6 mutation. 22488974

2012
dbSNP: rs121434226
rs121434226
IRF6
A 0.700 CausalMutation CLINVAR Missense mutations that cause Van der Woude syndrome and popliteal pterygium syndrome affect the DNA-binding and transcriptional activation functions of IRF6. 19036739

2009
dbSNP: rs121434226
rs121434226
IRF6
A 0.700 CausalMutation CLINVAR A familial case of popliteal pterygium syndrome. 18617879

2008